👤 Makenna B McGill

Metabolic syndrome (MetS) is linked to later-life cognitive decline and brain aging, but early detection of vulnerability in midlife remains challenging. This study applied two methods to detect subtle changes in midlife adults with MetS: (1) latent profile analysis (LPA) to identify cognitive performance patterns and (2) an MRI-derived brain-predicted age metric to assess structural brain aging. Participants were cognitively unimpaired, community-dwelling adults from prior studies on metabolic and brain health ( MetS prevalence differed across cognitive profiles (χ Cognitive profiles and brain-predicted age metrics identify early vulnerability in midlife MetS, underscoring the importance of early intervention. Show less

N-acetylglutamate synthase (NAGS) deficiency is a rare autosomal recessive disorder, which results in the inability to activate the key urea cycle enzyme, carbamoylphosphate synthetase 1 (CPS1). Patients often suffer life-threatening episodes of hyperammonaemia, both in the neonatal period and also at subsequent times of catabolic stress. Because NAGS generates the cofactor for CPS1, these two disorders are difficult to distinguish biochemically. However, there have now been numerous case reports of 3-methylglutaconic aciduria (3-MGA), a marker seen in mitochondrial disorders, occurring in CPS1 deficiency. Previously, this had not been reported in NAGS deficiency. We report a four-day-old neonate who was noted to have 3-MGA at the time of significant hyperammonaemia and lactic acidosis. Low plasma citrulline and borderline orotic aciduria were additional findings that suggested a proximal urea cycle disorder. Subsequent molecular testing identified bi-allelic pathogenic variants in Show less